A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome

J Allergy Clin Immunol. 2012 Feb;129(2):578-80. doi: 10.1016/j.jaci.2011.09.042. Epub 2011 Nov 10.

Authors

Hidenori Ohnishi, Rie Miyata, Tomonori Suzuki, Touichiro Nose, Kazuo Kubota, Zenichiro Kato, Hideo Kaneko, Naomi Kondo

PMID: 22078572
DOI: 10.1016/j.jaci.2011.09.042

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Ectodermal Dysplasia / diagnosis*
Ectodermal Dysplasia / genetics
Flow Cytometry
Humans
I-kappa B Proteins / genetics*
Immunoglobulins / blood
Immunologic Deficiency Syndromes / diagnosis*
Immunologic Deficiency Syndromes / genetics
Infant
Interleukin-1 Receptor-Associated Kinases / deficiency
Lipopolysaccharide Receptors / immunology
Lipopolysaccharides / pharmacology
Male
Mutation
NF-KappaB Inhibitor alpha
Tumor Necrosis Factor-alpha / immunology

Substances

I-kappa B Proteins
Immunoglobulins
Lipopolysaccharide Receptors
Lipopolysaccharides
NFKBIA protein, human
Tumor Necrosis Factor-alpha
NF-KappaB Inhibitor alpha
IRAK4 protein, human
Interleukin-1 Receptor-Associated Kinases